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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for KCNMA1

check button Gene summary
Gene informationGene symbol

KCNMA1

Gene ID

3778

Gene namepotassium calcium-activated channel subfamily M alpha 1
SynonymsBKTM|CADEDS|IEG16|KCa1.1|LIWAS|MaxiK|PNKD3|SAKCA|SLO|SLO-ALPHA|SLO1|bA205K10.1|hSlo|mSLO1
Cytomap

10q22.3

Type of geneprotein-coding
Descriptioncalcium-activated potassium channel subunit alpha-1uncharacterized proteinBK channel alpha subunitBKCA alpha subunitbig potassium channel alpha subunitcalcium-activated potassium channel, subfamily M subunit alpha-1k(VCA)alphamaxi-K channel HSLOpo
Modification date20200315
UniProtAcc

A0A087WZL8,

A0A0A0MRC3,

A0A0A0MRR0,

A0A0A0MSE6,

A0A1B0GWD4,

A0A1W2PNG1,

A0A1W2PNH9,

A0A1W2PNN5,

A0A1W2PNN6,

A0A1W2PNQ3,

A0A1W2PNW6,

A0A1W2PNX9,

A0A1W2PNY7,

A0A1W2PNY8,

A0A1W2PNY9,

A0A1W2PP06,

A0A1W2PP26,

A0A1W2PP37,

A0A1W2PP76,

A0A1W2PP94,

A0A1W2PPH9,

A0A1W2PPQ3,

A0A1W2PPS2,

A0A1W2PPT7,

A0A1W2PPX7,

A0A1W2PPY5,

A0A1W2PPZ1,

A0A1W2PQ39,

A0A1W2PQ53,

A0A1W2PQ61,

A0A1W2PQ93,

A0A1W2PQA0,

A0A1W2PQJ9,

A0A1W2PQK5,

A0A1W2PQR1,

A0A1W2PQU4,

A0A1W2PQZ4,

A0A1W2PQZ8,

A0A1W2PR56,

A0A1W2PR62,

A0A1W2PRA7,

A0A1W2PRB0,

A0A1W2PRC3,

A0A1W2PRE5,

A0A1W2PRF1,

A0A1W2PRG5,

A0A1W2PRJ1,

A0A1W2PRN5,

A0A1W2PRT6,

A0A1W2PRV4,

A0A1W2PRX6,

A0A1W2PS54,

A0A1W2PS97,

A0A1W2PSA7,

A0A1W2PSD3,

B7ZMF5,

D5MRH1,

H0Y379,

H0Y382,

H0Y406,

J3KQ16,

Q12791,

Q5SVJ7,

Q5SVJ8,

Q5SVJ9,

Q5SVK0,

Q5SVK5,

S4R2X4,

S4R453,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
KCNMA1

GO:0001666

response to hypoxia

15528406

KCNMA1

GO:0006813

potassium ion transport

7573516|7877450|11245614|12388065|17706472|18458941

KCNMA1

GO:0006970

response to osmotic stress

10840032|12388065

KCNMA1

GO:0030007

cellular potassium ion homeostasis

11245614

KCNMA1

GO:0034465

response to carbon monoxide

15528406

KCNMA1

GO:0042391

regulation of membrane potential

7877450|7993625

KCNMA1

GO:0045794

negative regulation of cell volume

12388065

KCNMA1

GO:0051592

response to calcium ion

12388065|18458941

KCNMA1

GO:0060073

micturition

11641143

KCNMA1

GO:0060083

smooth muscle contraction involved in micturition

11641143


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Gene structures and expression levels for KCNMA1

check buttonSkipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

ENSG00000156113
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
PGDOWNENST00000426234.5KCNMA1-AS1-201:lncRNA:KCNMA11.247862e+00-1.072402e+007.700208e-064.150068e-04
PGUPENST00000640969.1KCNMA1-293:protein_coding:KCNMA13.923898e+004.860056e+001.099524e-031.565698e-02
CBDOWNENST00000604624.6KCNMA1-223:protein_coding:KCNMA14.445297e+02-8.095726e-015.453915e-032.115479e-02
TCUPENST00000429850.2KCNMA1-AS1-202:lncRNA:KCNMA14.705648e+008.172663e-011.288107e-064.916396e-05
TCUPENST00000626620.3KCNMA1-225:protein_coding:KCNMA11.377110e+002.192387e+002.505609e-068.524896e-05
TCUPENST00000637862.2KCNMA1-226:protein_coding:KCNMA19.088128e-011.683098e+006.058338e-061.735445e-04
TCUPENST00000638514.1KCNMA1-238:protein_coding:KCNMA12.524225e+002.517236e+006.396810e-061.810907e-04
TCUPENST00000640969.1KCNMA1-293:protein_coding:KCNMA14.812017e+012.104256e+001.238565e-053.067555e-04
TCUPENST00000639716.1KCNMA1-269:protein_coding:KCNMA12.890861e+028.999868e-016.398618e-051.135994e-03
TCUPENST00000286627.10KCNMA1-201:protein_coding:KCNMA13.285221e+021.182606e+001.595944e-042.338677e-03
TCUPENST00000640093.1KCNMA1-277:nonsense_mediated_decay:KCNMA15.786526e+002.379471e+001.433939e-031.300586e-02
TCUPENST00000639601.1KCNMA1-266:protein_coding:KCNMA16.935973e+021.376272e+001.595827e-031.410788e-02

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for KCNMA1

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_104888chr1076877869:76877893:76884989:76885017:76887291:7688737776884989:76885017
exon_skip_105335chr1077027823:77027891:77039528:77039637:77073097:7707325277039528:77039637
exon_skip_110339chr1076909966:76910096:76914057:76914137:76914936:7691504976914057:76914137
exon_skip_112678chr1077001407:77001580:77008185:77008193:77011967:7701204377008185:77008193
exon_skip_113619chr1076974487:76974573:77011967:77012043:77019013:7701902377011967:77012043
exon_skip_118808chr1076877761:76877890:76887291:76887515:76889451:7688956976887291:76887515
exon_skip_125112chr1077019013:77019099:77025446:77025457:77027823:7702789177025446:77025457
exon_skip_130272chr1076970037:76970067:76974487:76974573:77008185:7700819376974487:76974573
exon_skip_131677chr1077039528:77039637:77073097:77073252:77079481:7707955077073097:77073252
exon_skip_145307chr1076914936:76915049:76944773:76944965:76949142:7694936676944773:76944965
exon_skip_147555chr1076884989:76885017:76887291:76887515:76889451:7688956976887291:76887515
exon_skip_155776chr1076970037:76970067:77001407:77001580:77011967:7701202477001407:77001580
exon_skip_161136chr1076877869:76877893:76884989:76885017:76887291:7688733976884989:76885017
exon_skip_165947chr1077184823:77184916:77249565:77249679:77251195:7725125677249565:77249679
exon_skip_167173chr1076953801:76953924:76969974:76970067:77011967:7701204376969974:76970067
exon_skip_169342chr1076877761:76877890:76884989:76885017:76887291:7688737776884989:76885017
exon_skip_177289chr1076974487:76974573:76977543:76977638:77011967:7701204376977543:76977638
exon_skip_177779chr1076970037:76970067:77001407:77001580:77011967:7701204377001407:77001580
exon_skip_192847chr1076970037:76970067:77001407:77001580:77008185:7700819377001407:77001580
exon_skip_195944chr1076970037:76970067:77008185:77008193:77011967:7701204377008185:77008193
exon_skip_197434chr1077108286:77108377:77108481:77108572:77110173:7711034377108481:77108572
exon_skip_197730chr1076949142:76949366:76952037:76952159:76953801:7695392476952037:76952159
exon_skip_214707chr1076909966:76910096:76914936:76915049:76944773:7694496576914936:76915049
exon_skip_219202chr1077251195:77251256:77403862:77404023:77637265:7763744777403862:77404023
exon_skip_223411chr1077011967:77012043:77012519:77012557:77019013:7701902377012519:77012557
exon_skip_235505chr1076969974:76970067:77011967:77012043:77019013:7702110677011967:77012043
exon_skip_253098chr1076953801:76953924:76969974:76970067:77027823:7702789176969974:76970067
exon_skip_258325chr1076884989:76885017:76887291:76887377:76889451:7688956976887291:76887377
exon_skip_270790chr1076949162:76949366:76952037:76952159:76953801:7695392476952037:76952159
exon_skip_33038chr1076974487:76974573:77008185:77008193:77011967:7701204377008185:77008193
exon_skip_3985chr1076877836:76877890:76884989:76885017:76887291:7688737776884989:76885017
exon_skip_40554chr1076970037:76970067:76974487:76974573:77011967:7701204376974487:76974573
exon_skip_48278chr1076877761:76877890:76884989:76885017:76887291:7688733976884989:76885017
exon_skip_49240chr1077090400:77090510:77108286:77108377:77108481:7710857277108286:77108377
exon_skip_52568chr1076889451:76889569:76891525:76891719:76909966:7691009676891525:76891719
exon_skip_52631chr1076887342:76887515:76889451:76889569:76891525:7689171976889451:76889569
exon_skip_72954chr1076877869:76877893:76887291:76887515:76889451:7688956976887291:76887515
exon_skip_78560chr1077184823:77184916:77251195:77251256:77403862:7740391377251195:77251256
exon_skip_83251chr1077079481:77079550:77084637:77084715:77086488:7708659377084637:77084715
exon_skip_83896chr1077086488:77086593:77090400:77090510:77108481:7710857277090400:77090510
exon_skip_85418chr1077079481:77079550:77084637:77084719:77086488:7708659377084637:77084719
exon_skip_8744chr1077090400:77090510:77108481:77108572:77110173:7711034377108481:77108572
exon_skip_95593chr1076970037:76970067:77011967:77012043:77019013:7701902377011967:77012043

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
psi tcga
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value
exon_skip_110339MSBB_PG6.050000e-017.581818e-01-1.531818e-011.242186e-02
exon_skip_125112MSBB_PG5.677698e-017.314545e-01-1.636848e-018.787673e-06
exon_skip_110339Mayo_TC3.576829e-015.073529e-01-1.496700e-011.635406e-05
exon_skip_125112Mayo_TC2.880247e-014.453846e-01-1.573599e-012.469722e-06


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Open reading frame (ORF) annotation in the exon skipping event for KCNMA1

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002866287688945176889569Frame-shift
ENST000002866287694477376944965Frame-shift
ENST000002866287703952877039637Frame-shift
ENST000002866287708463777084719Frame-shift
ENST000002866287710848177108572Frame-shift
ENST000002866287725119577251256Frame-shift
ENST000002866287689152576891719In-frame
ENST000002866287700140777001580In-frame
ENST000002866287707309777073252In-frame
ENST000002866287709040077090510In-frame
ENST000002866287740386277404023In-frame

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002866287703952877039637Frame-shift
ENST000002866287708463777084719Frame-shift
ENST000002866287691493676915049In-frame
ENST000002866287700140777001580In-frame
ENST000002866287707309777073252In-frame
ENST000002866287740386277404023In-frame

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002866287688945176889569Frame-shift
ENST000002866287689152576891719In-frame
ENST000002866287700140777001580In-frame
ENST000002866287707309777073252In-frame
ENST000002866287740386277404023In-frame

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Infer the effects of exon skipping event on protein functional features for KCNMA1

p-ENSG00000156113_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000286628625012367740386277404023512672126179
ENST0000028662862501236770904007709051013571466408444
ENST0000028662862501236770730977707325217271881531582
ENST0000028662862501236770014077700158022262398697755
ENST000002866286250123676891525768917193281347410491113

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000286628625012367740386277404023512672126179
ENST0000028662862501236770730977707325217271881531582
ENST0000028662862501236770014077700158022262398697755
ENST00000286628625012367691493676915049303631489671005

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000286628625012367740386277404023512672126179
ENST0000028662862501236770730977707325217271881531582
ENST0000028662862501236770014077700158022262398697755
ENST000002866286250123676891525768917193281347410491113

check button Lost protein functional features of individual exon skipping events in ROSMAP.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q12791126179127168Alternative sequenceID=VSP_009952;Note=In isoform 6. EAQKINNGSSQADGTLKPVDEKEEAVAAEVGWMTSVKDWAGV->ATHFGSPEMPPAARSWSGSPPEAAVLRGASSLALEVARCRRL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q127911261791691236Alternative sequenceID=VSP_009953;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q1279112617911236ChainID=PRO_0000054132;Note=Calcium-activated potassium channel subunit alpha-1
Q12791126179108178Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q12791126179179199TransmembraneNote=Helical%3B Name%3DSegment S1;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q127914084441691236Alternative sequenceID=VSP_009953;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q12791408444409415Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q12791408444439443Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q1279140844411236ChainID=PRO_0000054132;Note=Calcium-activated potassium channel subunit alpha-1
Q12791408444415558DomainNote=RCK N-terminal
Q12791408444418431HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q12791408444439439Metal bindingNote=Magnesium;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q12791408444434434Natural variantID=VAR_023821;Note=In PNKD3%3B may have a synergistic effect with ethanol in the triggering of symptoms. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15937479;Dbxref=dbSNP:rs137853333,PMID:15937479
Q127914084443891236Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q12791408444433437TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q127915315821691236Alternative sequenceID=VSP_009953;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q12791531582547550Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q1279153158211236ChainID=PRO_0000054132;Note=Calcium-activated potassium channel subunit alpha-1
Q12791531582415558DomainNote=RCK N-terminal
Q12791531582528531HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q12791531582532536HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q12791531582551564HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q12791531582568573HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q12791531582556576RegionNote=Segment S7
Q127915315823891236Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q12791531582542545TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q12791531582574576TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q127916977551691236Alternative sequenceID=VSP_009953;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q12791697755698756Alternative sequenceID=VSP_009955;Note=In isoform 2 and isoform 5. PKMSIYKRMRRACCFDCGRSERDCSCMSGRVRGNVDTLERAFPLSSVSVNDCSTSFRAF->L;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|Pu
Q12791697755698756Alternative sequenceID=VSP_009956;Note=In isoform 4. PKMSIYKRMRRACCFDCGRSERDCSCMSGRVRGNVDTLERAFPLSSVSVNDCSTSFRAF->LKVAARSRYSKDPFEFKKETPNSRLVTEPV;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:7987297,ECO:0000303|PubMed:8821792;Dbxref=PMID:7987297,PMID:8821
Q12791697755698756Alternative sequenceID=VSP_009957;Note=In isoform 7. PKMSIYKRMRRACCFDCGRSERDCSCMSGRVRGNVDTLERAFPLSSVSVNDCSTSFRAF->RWEEHCSLWRLESKGNVRRLNYCRGQQTFSVKVKVAARSRYSKDPFEFKKETPNSRLVTEPV;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q1279169775511236ChainID=PRO_0000054132;Note=Calcium-activated potassium channel subunit alpha-1
Q127916977553891236Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q12791104911131691236Alternative sequenceID=VSP_009953;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q127911049111310991104Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q127911049111311236ChainID=PRO_0000054132;Note=Calcium-activated potassium channel subunit alpha-1
Q127911049111310461052HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q127911049111310541064HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q127911049111310731079HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q127911049111310891093HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q127911049111311121114HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q127911049111310531053Natural variantID=VAR_079157;Note=In PNKD3. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26195193;Dbxref=dbSNP:rs886039469,PMID:26195193
Q127911049111310321052RegionNote=Segment S10
Q12791104911133891236Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q127911049111311051107TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q127911049111311091111TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5

check button Lost protein functional features of individual exon skipping events in MSBB.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q12791126179127168Alternative sequenceID=VSP_009952;Note=In isoform 6. EAQKINNGSSQADGTLKPVDEKEEAVAAEVGWMTSVKDWAGV->ATHFGSPEMPPAARSWSGSPPEAAVLRGASSLALEVARCRRL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q127911261791691236Alternative sequenceID=VSP_009953;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q1279112617911236ChainID=PRO_0000054132;Note=Calcium-activated potassium channel subunit alpha-1
Q12791126179108178Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q12791126179179199TransmembraneNote=Helical%3B Name%3DSegment S1;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q127915315821691236Alternative sequenceID=VSP_009953;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q12791531582547550Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q1279153158211236ChainID=PRO_0000054132;Note=Calcium-activated potassium channel subunit alpha-1
Q12791531582415558DomainNote=RCK N-terminal
Q12791531582528531HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q12791531582532536HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q12791531582551564HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q12791531582568573HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q12791531582556576RegionNote=Segment S7
Q127915315823891236Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q12791531582542545TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q12791531582574576TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q127916977551691236Alternative sequenceID=VSP_009953;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q12791697755698756Alternative sequenceID=VSP_009955;Note=In isoform 2 and isoform 5. PKMSIYKRMRRACCFDCGRSERDCSCMSGRVRGNVDTLERAFPLSSVSVNDCSTSFRAF->L;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|Pu
Q12791697755698756Alternative sequenceID=VSP_009956;Note=In isoform 4. PKMSIYKRMRRACCFDCGRSERDCSCMSGRVRGNVDTLERAFPLSSVSVNDCSTSFRAF->LKVAARSRYSKDPFEFKKETPNSRLVTEPV;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:7987297,ECO:0000303|PubMed:8821792;Dbxref=PMID:7987297,PMID:8821
Q12791697755698756Alternative sequenceID=VSP_009957;Note=In isoform 7. PKMSIYKRMRRACCFDCGRSERDCSCMSGRVRGNVDTLERAFPLSSVSVNDCSTSFRAF->RWEEHCSLWRLESKGNVRRLNYCRGQQTFSVKVKVAARSRYSKDPFEFKKETPNSRLVTEPV;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q1279169775511236ChainID=PRO_0000054132;Note=Calcium-activated potassium channel subunit alpha-1
Q127916977553891236Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q1279196710051691236Alternative sequenceID=VSP_009953;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q12791967100510011006Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q12791967100511236ChainID=PRO_0000054132;Note=Calcium-activated potassium channel subunit alpha-1
Q127919671005996998HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q127919671005970970Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08460
Q127919671005978978Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08460
Q127919671005982982Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q08460
Q12791967100510031025MotifNote=Calcium bowl
Q1279196710053891236Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255

check button Lost protein functional features of individual exon skipping events in Mayo.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q12791126179127168Alternative sequenceID=VSP_009952;Note=In isoform 6. EAQKINNGSSQADGTLKPVDEKEEAVAAEVGWMTSVKDWAGV->ATHFGSPEMPPAARSWSGSPPEAAVLRGASSLALEVARCRRL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q127911261791691236Alternative sequenceID=VSP_009953;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q1279112617911236ChainID=PRO_0000054132;Note=Calcium-activated potassium channel subunit alpha-1
Q12791126179108178Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q12791126179179199TransmembraneNote=Helical%3B Name%3DSegment S1;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q127915315821691236Alternative sequenceID=VSP_009953;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q12791531582547550Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q1279153158211236ChainID=PRO_0000054132;Note=Calcium-activated potassium channel subunit alpha-1
Q12791531582415558DomainNote=RCK N-terminal
Q12791531582528531HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q12791531582532536HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q12791531582551564HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q12791531582568573HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q12791531582556576RegionNote=Segment S7
Q127915315823891236Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q12791531582542545TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q12791531582574576TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q127916977551691236Alternative sequenceID=VSP_009953;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q12791697755698756Alternative sequenceID=VSP_009955;Note=In isoform 2 and isoform 5. PKMSIYKRMRRACCFDCGRSERDCSCMSGRVRGNVDTLERAFPLSSVSVNDCSTSFRAF->L;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|Pu
Q12791697755698756Alternative sequenceID=VSP_009956;Note=In isoform 4. PKMSIYKRMRRACCFDCGRSERDCSCMSGRVRGNVDTLERAFPLSSVSVNDCSTSFRAF->LKVAARSRYSKDPFEFKKETPNSRLVTEPV;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:7987297,ECO:0000303|PubMed:8821792;Dbxref=PMID:7987297,PMID:8821
Q12791697755698756Alternative sequenceID=VSP_009957;Note=In isoform 7. PKMSIYKRMRRACCFDCGRSERDCSCMSGRVRGNVDTLERAFPLSSVSVNDCSTSFRAF->RWEEHCSLWRLESKGNVRRLNYCRGQQTFSVKVKVAARSRYSKDPFEFKKETPNSRLVTEPV;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q1279169775511236ChainID=PRO_0000054132;Note=Calcium-activated potassium channel subunit alpha-1
Q127916977553891236Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q12791104911131691236Alternative sequenceID=VSP_009953;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q127911049111310991104Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q127911049111311236ChainID=PRO_0000054132;Note=Calcium-activated potassium channel subunit alpha-1
Q127911049111310461052HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q127911049111310541064HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q127911049111310731079HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q127911049111310891093HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q127911049111311121114HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q127911049111310531053Natural variantID=VAR_079157;Note=In PNKD3. N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26195193;Dbxref=dbSNP:rs886039469,PMID:26195193
Q127911049111310321052RegionNote=Segment S10
Q12791104911133891236Topological domainNote=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q127911049111311051107TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5
Q127911049111311091111TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3MT5


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3'-UTR located exon skipping events that lost miRNA binding sites in KCNMA1

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda

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SNVs in the skipped exons for KCNMA1

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for KCNMA1

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end
ADstageMSBBIFGexon_skip_405543.764406e-014.833254e-02chr10-769700377697006776974487769745737701196777012043
CDRMSBBIFGexon_skip_125112-4.632404e-011.304369e-02chr10-770190137701909977025446770254577702782377027891
CDRMSBBIFGexon_skip_405544.104885e-013.002769e-02chr10-769700377697006776974487769745737701196777012043

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KCNMA1

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR
PCCexon_skip_104888rs7086316chr10:769283946.536769e-051.248274e-02
PCCexon_skip_104888rs1873695chr10:769344557.487135e-051.367063e-02
DLPFCexon_skip_195944rs10824478chr10:769749087.979589e-044.652477e-02

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Correlation with RNA binding proteins (RBPs) for KCNMA1

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBHNRNPKexon_skip_1103395.233689e-011.023483e-10
CBKHDRBS2exon_skip_1103396.093365e-017.090987e-15
CBHNRNPA0exon_skip_1103394.491654e-015.862680e-08
CBPABPC1exon_skip_1103394.559248e-013.492812e-08
CBSRSF9exon_skip_1103394.239091e-013.686687e-07
CBEIF4Bexon_skip_1103395.024951e-017.139031e-10
CBSART3exon_skip_1103394.011380e-011.709828e-06
DLPFCKHDRBS2exon_skip_1103396.115032e-012.046972e-26
FLHNRNPKexon_skip_1103395.294553e-014.767277e-15
FLKHDRBS2exon_skip_1103394.536988e-015.514169e-11
FLHNRNPA0exon_skip_1103395.587237e-016.571593e-17
FLNUP42exon_skip_1103394.075219e-015.886304e-09
FLSRSF9exon_skip_1103395.326156e-013.061591e-15
FLEIF4Bexon_skip_1103395.143254e-013.730947e-14
FLSART3exon_skip_1103394.355097e-013.776359e-10
FLRALYLexon_skip_1959444.156137e-011.849518e-09
HCCRBM3exon_skip_1693424.132718e-011.085571e-11
HCCRBM3exon_skip_1048884.761204e-015.540451e-15
HCCIGF2BP2exon_skip_110339-4.313735e-011.157630e-13
HCCPABPC1exon_skip_110339-5.173862e-016.896038e-20
HCCPABPC4exon_skip_110339-5.018230e-011.254829e-18
HCCSART3exon_skip_110339-4.142822e-011.272931e-12
HCCRBMS2exon_skip_195944-5.978192e-012.908676e-27
HCCFUBP1exon_skip_195944-4.306616e-011.754403e-13
HCCRBMS2exon_skip_125112-6.846540e-011.507580e-38
HCCRBMS3exon_skip_125112-5.412514e-017.118827e-22
IFGIGF2BP2exon_skip_110339-5.706427e-011.519438e-03
IFGRBMS3exon_skip_195944-4.575857e-011.435046e-02
IFGRC3H1exon_skip_195944-4.097017e-013.037561e-02
IFGHNRNPDexon_skip_195944-4.674527e-011.213592e-02
IFGBOLLexon_skip_235505-4.734288e-011.093886e-02
IFGRBMS3exon_skip_125112-4.375605e-011.988133e-02
PCCRBM3exon_skip_1048885.422370e-011.312681e-15
PCCPABPC3exon_skip_110339-4.182980e-013.939248e-10
PCCPABPC1exon_skip_110339-5.169919e-011.783002e-15
PCCRBMS2exon_skip_195944-6.186986e-016.134137e-23
PCCRBMS3exon_skip_195944-4.292387e-011.494681e-10
PCCRBMS2exon_skip_83776-4.969707e-016.187794e-14
PCCRBMS2exon_skip_125112-6.479566e-011.952585e-25
PCCRBMS3exon_skip_125112-4.780893e-016.224208e-13
PGIGF2BP2exon_skip_110339-4.794741e-016.559406e-12
PGHNRNPKexon_skip_1103395.559611e-013.088794e-16
PGKHDRBS2exon_skip_1103395.176738e-016.182738e-14
PGHNRNPA0exon_skip_1103394.989154e-016.566952e-13
PGEIF4Bexon_skip_1103394.076079e-011.022807e-08
PGSART3exon_skip_1103394.342109e-018.200437e-10
PGRALYLexon_skip_1959445.186009e-017.537103e-14
STGIGF2BP3exon_skip_110339-4.734987e-013.623457e-06
STGIGF2BP2exon_skip_110339-4.288388e-013.410264e-05
STGHNRNPA0exon_skip_1103394.604811e-017.197391e-06
STGRBMS3exon_skip_125112-4.326455e-013.179582e-05
TCKHDRBS2exon_skip_1103398.191951e-011.465218e-37
TCHNRNPA0exon_skip_1103396.905224e-011.425249e-22
TCNUP42exon_skip_1103396.805848e-019.689028e-22
TCEWSR1exon_skip_1103394.054626e-012.644599e-07
TCSRSF9exon_skip_1103394.168302e-011.121081e-07
TCRBMS2exon_skip_195944-4.413507e-014.809982e-08
TCHNRNPDLexon_skip_1959444.238163e-011.810869e-07
TCHNRNPDexon_skip_1959445.502365e-011.893033e-12
TCRALYLexon_skip_1959447.435660e-016.854605e-26
TCRBMS2exon_skip_125112-6.072501e-014.446818e-16

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RelatedDrugs for KCNMA1

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
Q12791approvedDB00356Chlorzoxazonesmall moleculeQ12791
Q12791approvedDB00436Bendroflumethiazidesmall moleculeQ12791
Q12791approved|investigational|vet_approvedDB00721Procainesmall moleculeQ12791
Q12791approved|investigationalDB00774Hydroflumethiazidesmall moleculeQ12791
Q12791approved|vet_approvedDB00999Hydrochlorothiazidesmall moleculeQ12791
Q12791approvedDB01003Cromoglicic acidsmall moleculeQ12791
Q12791approved|investigational|vet_approvedDB01110Miconazolesmall moleculeQ12791
Q12791approvedDB01119Diazoxidesmall moleculeQ12791
Q12791approved|vet_approvedDB01159Halothanesmall moleculeQ12791
Q12791approved|investigationalDB04209Dequaliniumsmall moleculeQ12791
Q12791approvedDB09089Trimebutinesmall moleculeQ12791

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RelatedDiseases for KCNMA1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource